Canonical Allele Identifier: CA381618695

Gene: LRP5

Linked Data

• MyVariant Identifiers: chr11:g.68181323G>C (hg19) ; chr11:g.68413855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413855G>C , CM000673.2:g.68413855G>C	GRCh38
NC_000011.9:g.68181323G>C , CM000673.1:g.68181323G>C	GRCh37
NC_000011.8:g.67937899G>C	NCBI36
NG_015835.1:g.106216G>C
NG_015835.2:g.106216G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2670G>C MANE Select	ENSP00000294304.6:p.Met890Ile
ENST00000294304.11:c.2670G>C	ENSP00000294304.6:p.Met890Ile
ENST00000529993.5:c.*1276G>C	ENSP00000436652.1:n.*1276G>C
NM_001291902.1:c.927G>C	NP_001278831.1:p.Met309Ile
NM_002335.3:c.2670G>C	NP_002326.2:p.Met890Ile
XM_005273994.2:c.2670G>C	XP_005274051.1:p.Met890Ile
XM_011545029.1:c.2697G>C	XP_011543331.1:p.Met899Ile
XM_011545030.1:c.2697G>C	XP_011543332.1:p.Met899Ile
XM_011545031.1:c.2697G>C	XP_011543333.1:p.Met899Ile
XR_949925.1:n.2712G>C
XR_949926.1:n.2712G>C
XM_017017735.1:c.927G>C	XP_016873224.1:p.Met309Ile
XM_017017736.1:c.210G>C	XP_016873225.1:p.Met70Ile
XR_949925.2:n.2712G>C
XR_949926.2:n.2712G>C
NM_002335.4:c.2670G>C MANE Select	NP_002326.2:p.Met890Ile
NM_001291902.2:c.927G>C	NP_001278831.1:p.Met309Ile